Technological Options for Promoting Adaptive Behaviors of Children with Fragile X Syndrome

Fragile X syndrome (FXS) is a genetic pathology due to an excessive length of a repetitive sequence of trinucleotides (CGG) in a specific gene (FMR1), matched to FMR1 protein, which is primarily responsible for the regular brain developing and functioning. It represents one of the most usual cause of developmental disabilities with learning difficulties as consequence of intellectual, communicative and social disorders. Additionally, anxiety, hyperactivity, seizures, gaze avoidance and autism spectrum disorders are frequently described within its patterns, basically occurring in males. FXS physical characteristics usually include long and narrow visage, large ears, prominent jaws and foreheads. Stereotypic behaviors, aggression and self-injuries are equally described among this population [1-3]. Accordingly, individuals with FXS may be entirely considered as affected by severe to profound developmental disabilities. One way to enable the latter persons with the independent access to positive stimulation is the use of assistive technology (AT) [4]. It refers to any technological piece, device, tool or equipment enhancing selfdetermination [5]. Despite its large and wide use among children with developmental disabilities, few studies have been carried out on the use of AT within FXS populatio

Biofilm formation among Stenotrophomonas Maltophilia isolates has clinical relevance: The ANSELM prospective multicenter study

The ability to form biofilms is a recognized trait of Stenotrophomonas maltophilia, but the extent of its clinical relevance is still unclear. The present multicenter prospective study (ANSELM) aims at investigating the association between biofilm formation and clinical outcomes of S. maltophilia infections. One hundred and nine isolates were collected from various geographical origins and stratified according to their clinical relevance. Biofilm formation was evaluated by the microtiter plate assay and correlated with microbiological and clinical data from the associated strains. Antibiotic susceptibility of the planktonic cells was tested by the disk diffusion technique, while antibiotic activity against mature biofilms was spectrophotometrically assessed. Most strains (91.7%) were able to form biofilm, although bloodborne strains produced biofilm amounts significantly higher than strains causing hospital-rather than community-acquired infections, and those recognized as “definite” pathogens. Biofilm formation efficiency was positively correlated with mechanical ventilation (p = 0.032), whereas a negative relationship was found with antibiotic resistance (r2 = 0.107; p < 0.001), specifically in the case of the pathogenic strains. Mature S. maltophilia biofilms were markedly more resistant (up to 128 times) to cotrimoxazole and levofloxacin compared with their planktonic counterparts, especially in the case of bloodborne strains. Our findings indicate that biofilm formation by S. maltophilia is obviously a contributing factor in the pathogenesis of infections, especially in deep ones, thus warranting additional studies with larger cohort of patients and isolates

Quantifying not only bone loss, but also soft tissue swelling, in a murine inflammatory arthritis model using micro-computed tomography

In rodent models of inflammatory arthritis, bone erosion has been non-invasively assessed by micro-computed tomography (micro-CT). However, non-invasive assessments of paw swelling (oedema) are still based on clinical grading by visual evaluation, or measurements by callipers, not always reliable for the tiny mouse paws. The aim of this work was to demonstrate a novel straightforward 3D micro-CT analysis protocol capable of quantifying not only joint bone erosion, but also soft tissue swelling, from the same scans, in a rodent inflammatory arthritis model. Balb/c mice were divided into two groups: collagen antibody-induced arthritis (CAIA) and CAIA treated with prednisolone, the latter reflecting an established treatment in human rheumatoid arthritis. Clinical paw scores were recorded. On day 10, front paws were assessed by micro-CT and histology. Micro-CT measurements included paw volume (bone and soft tissue together) and bone volume at the radiocarpal joint, and bone volume from the radiocarpal to the metacarpophalangeal joint. Micro-CT analysis revealed significantly lower paw volume (−36%, P 0.5, P < 0.01). Untreated CAIA mice showed significantly higher clinical scores, higher inflammation levels histologically, cartilage and bone degradation, and pannus formation, compared with treated mice (P < 0.01). The presented novel micro-CT analysis protocol enables 3D-quantification of paw swelling at the micrometre level, along with the typically assessed bone erosion, using the same images/scans, without altering the scanning procedure or using contrast agents.E. Perilli, M. Cantley, V. Marino, T. N. Crotti, M. D. Smith, D. R. Haynes and A. A. S. S. K. Dharmapatn

Exploring Headaches in Pediatric Behçet Disease: Prevalence, Clinical Impact, and Management

Behçet’s Disease (BD), also recognized as Behçet Syndrome, manifests uniquely in pediatric populations as Pediatric Behçet’s Disease (PBD), characterized by multisystemic inflammatory symptoms including recurrent oral and genital aphthae, and diverse ocular, vascular, and neurological involvements. This review elucidates the prevalence, burden, and management strategies of headaches in children with PBD, focusing on both primary headaches, such as migraine and tension-type headaches, and secondary headaches linked to systemic disease manifestations. It explores the pathophysiological underpinnings specific to PBD-related headaches and discusses the intricate relationship between systemic inflammatory processes and neurological symptoms. By examining the literature from 2004 to 2024, this study highlights the high frequency of headache in PBD patients, underscoring its diagnostic and clinical significance. We aim to provide a detailed understanding of headache management in PBD, emphasizing tailored therapeutic strategies that address the unique challenges faced by this patient population. This review also underscores the importance of comprehensive clinical evaluations to optimize outcomes and mitigate long-term sequelae, proposing that awareness and understanding of headache in PBD can significantly enhance both diagnosis and management

Impact modelling and a posteriori non-destructive evaluation of homogeneous particleboards of sugarcane bagasse

With a view to gaining an in-depth assessment of the response of particleboards (PBs) to different in-service loading conditions, samples of high-density homogeneous PBs of sugarcane bagasse and castor oil polyurethane resin were manufactured and subjected to low velocity impacts using an instrumented drop weight impact tower and four different energy levels, namely 5, 10, 20 and 30 J. The prediction of the damage modes was assessed using Comsol Multiphysics ® . ®. In particular, the random distribution of the fibres and their lengths were reproduced through a robust model. The experimentally obtained dent depths due to the impactor were compared with the ones numerically simulated showing good agreement. The post-impact damage was evaluated by a simultaneous system of image acquisitions coming from two different sensors. In particular, thermograms were recorded during the heating up and cooling down phases, while the specklegrams were gathered one at room temperature (as reference) and the remaining during the cooling down phase. On one hand, the specklegrams were processed via a new software package named Ncorr v.1.2, which is an open-source subset-based 2D digital image correlation (DIC) package that combines modern DIC algorithms proposed in the literature with additional enhancements. On the other hand, the thermographic results linked to a square pulse were compared with those coming from the laser line thermography technique that heats a line-region on the surface of the sample instead of a spot. Surprisingly, both the vibrothermography and the line scanning thermography methods coupled with a robotized system show substantial advantages in the defect detection around the impacted zone

Eight basic principles for the elaboration of public policies and development projects for the Pantanal.

Abstract: The Pantanal is considered the largest continuous freshwater wetland in the world, and its sustainable use requires a unified conceptual framework. The lengthy process to establish public policies has contributed to the increasing vulnerability of the Pantanal. Given the need for a conceptual basis to help this process, we elaborate a list of eight basic principles based on the accumulated scientific evidence: (i) Consider the Paraguay River Basin a management unity; (ii) Establish rules that follow the concept of restricted use approach; (iii) Ensure the ecologically sustainable use of the Pantanal; (iv) Maintain the environmental heterogeneity and functionality in the Pantanal landscapes; (v) Maintain the hydrological integrity and connectivity; (vi) Ensure the environmental representativeness of the protected areas network; (vii) Provide economic incentives for conservationist use of the land; and (viii) Recognize and protect traditional people, their values, resources, and way of living. However, the elaboration of public policies should be a participatory and inclusive decision‐making process towards a more just and sustainable future.Online first

Profiling Insulin Like Factor 3 (INSL3) Signaling in Human Osteoblasts

Abstract BACKGROUND: Young men with mutations in the gene for the INSL3 receptor (Relaxin family peptide 2, RXFP2) are at risk of reduced bone mass and osteoporosis. Consistent with the human phenotype, bone analyses of Rxfp2(-/-) mice showed decreased bone volume, alterations of the trabecular bone, reduced mineralizing surface, bone formation, and osteoclast surface. The aim of this study was to elucidate the INSL3/RXFP2 signaling pathways and targets in human osteoblasts. METHODOLOGY/PRINCIPAL FINDINGS: Alkaline phosphatase (ALP) production, protein phosphorylation, intracellular calcium, gene expression, and mineralization studies have been performed. INSL3 induced a significant increase in ALP production, and Western blot and ELISA analyses of multiple intracellular signaling pathway molecules and their phosphorylation status revealed that the MAPK was the major pathway influenced by INSL3, whereas it does not modify intracellular calcium concentration. Quantitative Real Time PCR and Western blotting showed that INSL3 regulates the expression of different osteoblast markers. Alizarin red-S staining confirmed that INSL3-stimulated osteoblasts are fully differentiated and able to mineralize the extracellular matrix. CONCLUSIONS/SIGNIFICANCE: Together with previous findings, this study demonstrates that the INSL3/RXFP2 system is involved in bone metabolism by acting on the MAPK cascade and stimulating transcription of important genes of osteoblast maturation/differentiation and osteoclastogenesis